Literature DB >> 2746622

Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.

R C Shepherd1, D R Goudie, J L Tolmie.   

Abstract

We report a mother and two of her children, one female and the other male, who have ptosis, hypertelorism, epicanthic folds, downward slanting palpebral fissures, broad nasal bridge, and minor digital anomalies (fig 1); the children had delayed closure of a large anterior fontanelle. All three affected persons were born prematurely.

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Year:  1989        PMID: 2746622      PMCID: PMC1015655          DOI: 10.1136/jmg.26.7.470

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

Review 1.  Autosomal dominant inheritance of the Aarskog syndrome.

Authors:  R E Grier; F H Farrington; R Kendig; P Mamunes
Journal:  Am J Med Genet       Date:  1983-05

2.  New autosomal recessive faciodigitogenital syndrome.

Authors:  A S Teebi; K K Naguib; S Al-Awadi; Q A Al-Saleh
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

  2 in total

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